Hypervariable ‘minisatellite’ regions in human DNA

Abstract

The human genome contains many dispersed tandem-repetitive 'minisatellite' regions detected via a shared 10-15-base pair 'core' sequence similar to the generalized recombination signal (chi) of Escherichia coli. Many minisatellites are highly polymorphic due to allelic variation in repeat copy number in the minisatellite. A probe based on a tandem-repeat of the core sequence can detect many highly variable loci simultaneously and can provide an individual-specific DNA 'fingerprint' of general use in human genetic analysis.

Characterization of a major polymorphic tandem repeat in Mycobacterium tuberculosis and its potential use in the epidemiology of Mycobacterium kansasii and Mycobacterium gordonae

“…Although chi is repetitively present in the E. coli chromosome, this sequence is not known to be present in tandem arrays (21). Interestingly, minisatellite DNA sequences that occur in tandem arrays also share similarity with chi (17), suggesting that the MPTR arrays may be minisatellitelike sequences present in the M. tuberculosis chromosome. Although speculative, the similarity of the MPTR sequence with chi might implicate a function as a signal for recombination.…”

DNA profiling: The first 30years

“…This year marks 30 years since the seminal publications by Alec Jeffreys et al appeared in Nature (1)(2)(3). At the time Jeffreys was studying gene structure and function; when he found regions of DNA that were highly variable he had the insight to recognize that hypervariable regions could be applied to human identification.…”

Nuclear pseudogenes of mitochondrial DNA as a variable part of the human genome

“…It was known that microsatellite DNA changed copy numbers via intra-allelic duplications/deletions and inter-allelic recombination/conversions depending on flanking sequences [38][39][40]. It would be interesting to find out whether the mtDNA pseudogenes changed copy numbers as minisatellite DNA did.…”